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Aliases for NAGPA Gene

Aliases for NAGPA Gene

  • N-Acetylglucosamine-1-Phosphodiester Alpha-N-Acetylglucosaminidase 2 3 5
  • Mannose 6-Phosphate-Uncovering Enzyme 3 4
  • Phosphodiester Alpha-GlcNAcase 3 4
  • Alpha-N-Acetylglucosaminyl Phosphodiesterase 3
  • Lysosomal Alpha-N-Acetylglucosaminidase 3
  • EC 3.1.4.45 4
  • APAA 3
  • UCE 3

External Ids for NAGPA Gene

Previous GeneCards Identifiers for NAGPA Gene

  • GC16M005107
  • GC16M005075

Summaries for NAGPA Gene

Entrez Gene Summary for NAGPA Gene

  • Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]

GeneCards Summary for NAGPA Gene

NAGPA (N-Acetylglucosamine-1-Phosphodiester Alpha-N-Acetylglucosaminidase) is a Protein Coding gene. Diseases associated with NAGPA include stuttering and speech disorder. Among its related pathways are Lysosome. GO annotations related to this gene include N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity.

UniProtKB/Swiss-Prot for NAGPA Gene

  • Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.

Gene Wiki entry for NAGPA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAGPA Gene

Genomics for NAGPA Gene

Regulatory Elements for NAGPA Gene

Promoters for NAGPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NAGPA on UCSC Golden Path with GeneCards custom track

Genomic Location for NAGPA Gene

Chromosome:
16
Start:
5,024,844 bp from pter
End:
5,034,141 bp from pter
Size:
9,298 bases
Orientation:
Minus strand

Genomic View for NAGPA Gene

Genes around NAGPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAGPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAGPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAGPA Gene

Proteins for NAGPA Gene

  • Protein details for NAGPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK23-NAGPA_HUMAN
    Recommended name:
    N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
    Protein Accession:
    Q9UK23
    Secondary Accessions:
    • B2RAS1
    • Q96EJ8

    Protein attributes for NAGPA Gene

    Size:
    515 amino acids
    Molecular mass:
    56073 Da
    Quaternary structure:
    • Homotetramer arranged as two disulfide-linked homodimers.

    Alternative splice isoforms for NAGPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAGPA Gene

Proteomics data for NAGPA Gene at MOPED

Post-translational modifications for NAGPA Gene

  • The precursor is cleaved and activated in the trans-Golgi network by a furin endopeptidase.
  • Glycosylation at Asn 208, Asn 214, Asn 296, Asn 366, Asn 388, and Asn 420
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NAGPA Gene

Domains & Families for NAGPA Gene

Protein Domains for NAGPA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NAGPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UK23

UniProtKB/Swiss-Prot:

NAGPA_HUMAN :
  • The tyrosine-based internalization signal may be essential for its retrieval from the plasma membrane to the TGN.
Domain:
  • The tyrosine-based internalization signal may be essential for its retrieval from the plasma membrane to the TGN.
  • The C-terminal NPFKD sequence is an attractive candidate for either an endocytosis signal acting at the plasma membrane or a retrieval signal acting at the TGN to return the enzyme to the cis/medial-Golgi.
  • Contains 1 EGF-like domain.
genes like me logo Genes that share domains with NAGPA: view

No data available for Gene Families for NAGPA Gene

Function for NAGPA Gene

Molecular function for NAGPA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Glycoprotein N-acetyl-D-glucosaminyl-phospho-D-mannose + H(2)O = N-acetyl-D-glucosamine + glycoprotein phospho-D-mannose.
UniProtKB/Swiss-Prot Function:
Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.

Enzyme Numbers (IUBMB) for NAGPA Gene

genes like me logo Genes that share phenotypes with NAGPA: view

Animal Models for NAGPA Gene

MGI Knock Outs for NAGPA:

Animal Model Products

  • Taconic Biosciences Mouse Models for NAGPA

miRNA for NAGPA Gene

miRTarBase miRNAs that target NAGPA

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NAGPA Gene

Localization for NAGPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAGPA Gene

Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Note=Cis/medial Golgi.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NAGPA Gene COMPARTMENTS Subcellular localization image for NAGPA gene
Compartment Confidence
golgi apparatus 4
extracellular 2
lysosome 2
plasma membrane 2
vacuole 2
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for NAGPA Gene

Pathways & Interactions for NAGPA Gene

SuperPathways for NAGPA Gene

Superpath Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with NAGPA: view

Pathways by source for NAGPA Gene

1 KEGG pathway for NAGPA Gene

UniProtKB/Swiss-Prot Q9UK23-NAGPA_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for NAGPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 10551838
genes like me logo Genes that share ontologies with NAGPA: view

No data available for SIGNOR curated interactions for NAGPA Gene

Drugs & Compounds for NAGPA Gene

(1) Drugs for NAGPA Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra Target 0

(6) Additional Compounds for NAGPA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with NAGPA: view

Transcripts for NAGPA Gene

Unigene Clusters for NAGPA Gene

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NAGPA Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ·
SP1: - -
SP2: - - - -
SP3:
SP4: - - - - - - - - - - - - -
SP5: - - - - -
SP6: - - -
SP7: - - - - - - - - - -
SP8: - - - - - -
SP9: -
SP10: - -
SP11:
SP12: - - - - - - - -
SP13: - - -

ExUns: 13c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for NAGPA Gene

GeneLoc Exon Structure for
NAGPA
ECgene alternative splicing isoforms for
NAGPA

Expression for NAGPA Gene

mRNA expression in normal human tissues for NAGPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NAGPA Gene

This gene is overexpressed in Monocytes (60.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NAGPA Gene



SOURCE GeneReport for Unigene cluster for NAGPA Gene Hs.21334

mRNA Expression by UniProt/SwissProt for NAGPA Gene

Q9UK23-NAGPA_HUMAN
Tissue specificity: Isoform 2 may be brain-specific.
genes like me logo Genes that share expression patterns with NAGPA: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for NAGPA Gene

Orthologs for NAGPA Gene

This gene was present in the common ancestor of chordates.

Orthologs for NAGPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAGPA 35
  • 99.35 (n)
  • 99.61 (a)
NAGPA 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NAGPA 36
  • 81 (a)
OneToOne
NAGPA 35
  • 85.44 (n)
  • 83.3 (a)
dog
(Canis familiaris)
Mammalia NAGPA 35
  • 86.45 (n)
  • 85.8 (a)
NAGPA 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nagpa 16
Nagpa 36
  • 80 (a)
OneToOne
Nagpa 35
  • 82.14 (n)
  • 80.39 (a)
oppossum
(Monodelphis domestica)
Mammalia NAGPA 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nagpa 35
  • 81.55 (n)
  • 80.97 (a)
chicken
(Gallus gallus)
Aves NAGPA 35
  • 64.27 (n)
  • 62.42 (a)
NAGPA 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAGPA 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nagpa 35
  • 56.04 (n)
  • 61.73 (a)
zebrafish
(Danio rerio)
Actinopterygii NAGPA 36
  • 44 (a)
OneToOne
zgc:165534 35
  • 60.26 (n)
  • 58.97 (a)
Species with no ortholog for NAGPA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NAGPA Gene

ENSEMBL:
Gene Tree for NAGPA (if available)
TreeFam:
Gene Tree for NAGPA (if available)

Paralogs for NAGPA Gene

No data available for Paralogs for NAGPA Gene

Variants for NAGPA Gene

Sequence variations from dbSNP and Humsavar for NAGPA Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs7188856 - 5,025,632(+) CTGCA(A/G)TGCTG intron-variant, reference, missense
VAR_073225 -
VAR_073226 -
rs1995278 -- 5,028,840(-) AGTCC(A/C/G)GGTCT intron-variant
rs2908667 -- 5,024,544(-) GTGCA(A/G)TGGCA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for NAGPA Gene

Variant ID Type Subtype PubMed ID
esv2422516 CNV Deletion 17116639
esv25186 CNV Gain 19812545
nsv905254 CNV Loss 21882294
dgv795e1 CNV Complex 17122850
nsv905255 CNV Loss 21882294
nsv457360 CNV Loss 19166990
esv34300 CNV Gain 17911159
dgv796e1 CNV Complex 17122850
nsv817715 CNV Gain 17921354
nsv428318 CNV Gain 18775914
nsv1722 CNV Loss 18451855

Variation tolerance for NAGPA Gene

Residual Variation Intolerance Score: 45.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAGPA Gene

HapMap Linkage Disequilibrium report
NAGPA
Human Gene Mutation Database (HGMD)
NAGPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAGPA Gene

Disorders for NAGPA Gene

MalaCards: The human disease database

(6) MalaCards diseases for NAGPA Gene - From: GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
stuttering
  • familial persistent stuttering
speech disorder
  • speech disorders
articulation disorder
  • articulation impairment
mucopolysaccharidosis type iiib
  • n-acetyl-alpha-d-glucosaminidase deficiency
background diabetic retinopathy
  • non proliferative diabetic retinopathy
- elite association - COSMIC cancer census association via MalaCards
Search NAGPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NAGPA_HUMAN
  • Note=Defects in NAGPA have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. {ECO:0000269 PubMed:20147709}.

Relevant External Links for NAGPA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAGPA
genes like me logo Genes that share disorders with NAGPA: view

No data available for Genatlas for NAGPA Gene

Publications for NAGPA Gene

  1. Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin. (PMID: 12058031) Do H. … Kornfeld S. (J. Biol. Chem. 2002) 2 3 4 23 67
  2. Domain 5 of the cation-independent mannose 6-phosphate receptor preferentially binds phosphodiesters (mannose 6-phosphate N-acetylglucosamine ester). (PMID: 17927214) Chavez C.A. … Dahms N.M. (Biochemistry 2007) 23 25 26
  3. Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N- acetylglucosaminidase. (PMID: 10551838) Kornfeld R.H. … Canfield W.M. (J. Biol. Chem. 1999) 2 3 23
  4. Purification and multimeric structure of bovine N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. (PMID: 9722550) Kornfeld R. … Canfield W.M. (J. Biol. Chem. 1998) 3 25 26
  5. Purification and kinetic parameters of bovine liver N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. (PMID: 8294420) Mullis K.G. … Kornfeld R.H. (J. Biol. Chem. 1994) 23 25 26

Products for NAGPA Gene

Sources for NAGPA Gene

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